ScopeSYNLAB Medizinisches Versorgungszentrum Humangenetik Mannheim
Official name: SYNLAB Medizinisches Versorgungszentrum Humangenetik Mannheim GmbH
920 capabilities
Accredited since May 2025
Verified Apr 2026
One of 3,039 in Germany
Details
Harrlachweg 1
Mannheim 68163 , Germany
Mannheim 68163 , Germany
Accreditation
Active
DAkkS
D-ML-13293-01-00
Specialises in human genetics testing including molecular human genetics and cytogenetics, with accreditation scope permitting modification and development of laboratory procedures for genetic analysis.
Accreditation Details
Accreditation Body
DAkkS
Number
D-ML-13293-01-00
Status
ActiveSince
06 May 2025
Accreditation is granted under EU Regulation 765/2008 and assessed against ISO/IEC 17025. Data sourced from official DAkkS records.
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Test Capabilities (920)
| Standard Reference | Description | Category |
|---|---|---|
| Arrhythmogene rechtsventrikuläre | Arrhythmogene rechtsventrikuläre | Biocompatibility (ISO 10993) |
| Erythrozytose, familiäre (ECYT2) | Erythrozytose, familiäre (ECYT2) | Chemical |
| TSEN54 | TSEN54 | Chemical |
| Multi-Steroid Analyse (CAH) | Multi-Steroid Analyse (CAH) | Chromatography (GC, HPLC) |
| Pränataler PCR Schnelltest: | Pränataler PCR Schnelltest: | Chromatography (GC, HPLC) |
| Beta Amyloid 1-42 | Beta Amyloid 1-42 | Clinical Chemistry |
| 31 Mutationen im CFTR | 31 Mutationen im CFTR | Elemental Analysis |
| ACTA2 | ACTA2 | Elemental Analysis |
| ACTC1 | ACTC1 | Elemental Analysis |
| BRCA-Panel; BRCA1, BRCA2 | BRCA-Panel; BRCA1, BRCA2 | Elemental Analysis |
| CACNA1C | CACNA1C | Elemental Analysis |
| CACNB2 | CACNB2 | Elemental Analysis |
| CDH1; erbl. Magenkarzinom | CDH1; erbl. Magenkarzinom | Elemental Analysis |
| FH-Panel; LDLRAP1, PCSK9, STAP1, LDLR | FH-Panel; LDLRAP1, PCSK9, STAP1, LDLR | Elemental Analysis |
| Familiäres Brust- und Ovarialkarzinom | Familiäres Brust- und Ovarialkarzinom | Elemental Analysis |
| GPD1L | GPD1L | Elemental Analysis |
| Hämochromatose (HFE) | Hämochromatose (HFE) | Elemental Analysis |
| KCNE1 | KCNE1 | Elemental Analysis |
| KCNE2 | KCNE2 | Elemental Analysis |
| KCNE3 | KCNE3 | Elemental Analysis |
| KCNH2 | KCNH2 | Elemental Analysis |
| KCNJ11 | KCNJ11 | Elemental Analysis |
| KCNQ1 | KCNQ1 | Elemental Analysis |
| MYBPC3 | MYBPC3 | Elemental Analysis |
| MYH7 | MYH7 | Elemental Analysis |
| PRKAG2 | PRKAG2 | Elemental Analysis |
| PTPN11 | PTPN11 | Elemental Analysis |
| SCN5A | SCN5A | Elemental Analysis |
| Störung der | Störung der | Elemental Analysis |
| TGFBR1 | TGFBR1 | Elemental Analysis |
| TGFBR2 | TGFBR2 | Elemental Analysis |
| TNNI3 | TNNI3 | Elemental Analysis |
| TPM1 | TPM1 | Elemental Analysis |
| DIN EN 116 (1998-01) | ID116 | Fuel Testing |
| Meerblaue Histiozytose | Meerblaue Histiozytose | Hematology |
| (-13910C>T) | (-13910C>T) | Molecular Diagnostics / PCR |
| (AAT, TAAD) - EBM 11448: ID020 | (AAT, TAAD) - EBM 11448: ID020 | Molecular Diagnostics / PCR |
| (AAT4) | (AAT4) | Molecular Diagnostics / PCR |
| (ACMICD) | (ACMICD) | Molecular Diagnostics / PCR |
| (AMD, ARMD): ID186 | (AMD, ARMD): ID186 | Molecular Diagnostics / PCR |
| (ANCR, 15q11-q13) | (ANCR, 15q11-q13) | Molecular Diagnostics / PCR |
| (ASD, VSD, AVSD): ID143 | (ASD, VSD, AVSD): ID143 | Molecular Diagnostics / PCR |
| (ATFB): ID016 | (ATFB): ID016 | Molecular Diagnostics / PCR |
| (ATFB10) | (ATFB10) | Molecular Diagnostics / PCR |
| (ATFB3) | (ATFB3) | Molecular Diagnostics / PCR |
| (ATFB4) | (ATFB4) | Molecular Diagnostics / PCR |
| (AZFa, AZFb, AZFc) | (AZFa, AZFb, AZFc) | Molecular Diagnostics / PCR |
| (Aneuploidie 13, 18, 21, X, Y) | (Aneuploidie 13, 18, 21, X, Y) | Molecular Diagnostics / PCR |
| (BTPS2) | (BTPS2) | Molecular Diagnostics / PCR |
| (BWS) | Wiedemann-Syndrom (BWS): 11p15 | Molecular Diagnostics / PCR |
| (CAKUT): ID229 | (CAKUT): ID229 | Molecular Diagnostics / PCR |
| (CDLS): ID033 | (CDLS): ID033 | Molecular Diagnostics / PCR |
| (CFC1) | (CFC1) | Molecular Diagnostics / PCR |
| (CFC2) | (CFC2) | Molecular Diagnostics / PCR |
| (CLN): ID132 | (CLN): ID132 | Molecular Diagnostics / PCR |
| (CMD, DCM): ID008 | (CMD, DCM): ID008 | Molecular Diagnostics / PCR |
| (CMD1A) | (CMD1A) | Molecular Diagnostics / PCR |
| (CMD1E) | (CMD1E) | Molecular Diagnostics / PCR |
| (CMD1FF) | (CMD1FF) | Molecular Diagnostics / PCR |
| (CMD1GG) | (CMD1GG) | Molecular Diagnostics / PCR |
| (CMD1MM) | (CMD1MM) | Molecular Diagnostics / PCR |
| (CMD1NN) | (CMD1NN) | Molecular Diagnostics / PCR |
| (CMD1R) | (CMD1R) | Molecular Diagnostics / PCR |
| (CMD1S) | (CMD1S) | Molecular Diagnostics / PCR |
| (CMD1Y) | (CMD1Y) | Molecular Diagnostics / PCR |
| (CMD2A) | (CMD2A) | Molecular Diagnostics / PCR |
| (CMH, HCM): ID007 | (CMH, HCM): ID007 | Molecular Diagnostics / PCR |
| (CMH1) | (CMH1) | Molecular Diagnostics / PCR |
| (CMH11) | (CMH11) | Molecular Diagnostics / PCR |
| (CMH3) | (CMH3) | Molecular Diagnostics / PCR |
| (CMH4) | (CMH4) | Molecular Diagnostics / PCR |
| (CMH6) | (CMH6) | Molecular Diagnostics / PCR |
| (CMH7) | (CMH7) | Molecular Diagnostics / PCR |
| (CMM): ID193 | (CMM): ID193 | Molecular Diagnostics / PCR |
| (CMT, HMSN): ID051 | (CMT, HMSN): ID051 | Molecular Diagnostics / PCR |
| (COXPD): ID287 | (COXPD): ID287 | Molecular Diagnostics / PCR |
| (CTHM): ID160 | (CTHM): ID160 | Molecular Diagnostics / PCR |
| (DEE, EIEE): ID080 | (DEE, EIEE): ID080 | Molecular Diagnostics / PCR |
| (DEE42) | (DEE42) | Molecular Diagnostics / PCR |
| (EDM): ID202 | (EDM): ID202 | Molecular Diagnostics / PCR |
| (EDMD): ID121 | (EDMD): ID121 | Molecular Diagnostics / PCR |
| (FAP1) | (FAP1) | Molecular Diagnostics / PCR |
| (FAP2) | (FAP2) | Molecular Diagnostics / PCR |
| (FCHL2) | (FCHL2) | Molecular Diagnostics / PCR |
| (FEPS): ID268 | (FEPS): ID268 | Molecular Diagnostics / PCR |
| (FHCL1) | (FHCL1) | Molecular Diagnostics / PCR |
| (FHCL3) | (FHCL3) | Molecular Diagnostics / PCR |
| (FHCL4) | (FHCL4) | Molecular Diagnostics / PCR |
| (FHM1) | (FHM1) | Molecular Diagnostics / PCR |
| (FHM2) | (FHM2) | Molecular Diagnostics / PCR |
| (FXTAS) | Ataxie-Syndrom (FXTAS): FMR1 | Molecular Diagnostics / PCR |
| (GAMOS): ID251 | (GAMOS): ID251 | Molecular Diagnostics / PCR |
| (GEFSP, GEFS+): ID235 | (GEFSP, GEFS+): ID235 | Molecular Diagnostics / PCR |
| (GPHYSD2) | (GPHYSD2) | Molecular Diagnostics / PCR |
| (HHF): ABCC8, GCK, GLUD1, HADH, HNF1A, HNF4A, INSR, KCNJ11, SLC16A1, UCP2 | (HHF): ABCC8, GCK, GLUD1, HADH, HNF1A, HNF4A, INSR, KCNJ11, SLC16A1, UCP2 | Molecular Diagnostics / PCR |
| (HMN, DSMA): ID254 | (HMN, DSMA): ID254 | Molecular Diagnostics / PCR |
| (HPC9) | (HPC9) | Molecular Diagnostics / PCR |
| (HPF): ID088 | (HPF): ID088 | Molecular Diagnostics / PCR |
| (HSAN, HSN): ID086 | (HSAN, HSN): ID086 | Molecular Diagnostics / PCR |
| (HYSP1) | (HYSP1) | Molecular Diagnostics / PCR |
| (LCA) | (LCA): ID187 | Molecular Diagnostics / PCR |
| (LGMD): ID122 | (LGMD): ID122 | Molecular Diagnostics / PCR |
| (LOMARS) | (LOMARS) | Molecular Diagnostics / PCR |
| (LVNC10) | (LVNC10) | Molecular Diagnostics / PCR |
| (LVNC4) | (LVNC4) | Molecular Diagnostics / PCR |
| (LVNC5) | (LVNC5) | Molecular Diagnostics / PCR |
| (LVNC9) | (LVNC9) | Molecular Diagnostics / PCR |
| (MC2DN1) | (MC2DN1) | Molecular Diagnostics / PCR |
| (MC2DN3) | (MC2DN3) | Molecular Diagnostics / PCR |
| (MC2DN4) | (MC2DN4) | Molecular Diagnostics / PCR |
| (MFD): ID188 | (MFD): ID188 | Molecular Diagnostics / PCR |
| (MSI-H): ID283 | (MSI-H): ID283 | Molecular Diagnostics / PCR |
| (OBAIRH) | (OBAIRH) | Molecular Diagnostics / PCR |
| (PHA): ID250 | (PHA): ID250 | Molecular Diagnostics / PCR |
| (POF): ID078 | (POF): ID078 | Molecular Diagnostics / PCR |
| (POF1) | (POF1) | Molecular Diagnostics / PCR |
| (PREMBL, OOMD): ID239 | (PREMBL, OOMD): ID239 | Molecular Diagnostics / PCR |
| (PTORCH1) | (PTORCH1) | Molecular Diagnostics / PCR |
| (PWCR, 15q11-q13) | (PWCR, 15q11-q13) | Molecular Diagnostics / PCR |
| (PWS) | Prader-Willi-Syndrom (PWS) | Molecular Diagnostics / PCR |
| (PWS)WS/Angelman-Syndrom (AS) | (PWS)WS/Angelman-Syndrom (AS) | Molecular Diagnostics / PCR |
| (RCM1) | (RCM1) | Molecular Diagnostics / PCR |
| (SCDO): ID227 | (SCDO): ID227 | Molecular Diagnostics / PCR |
| (SED, SMD, SEMD): ID110 | (SED, SMD, SEMD): ID110 | Molecular Diagnostics / PCR |
| (SPGF): ID192 | (SPGF): ID192 | Molecular Diagnostics / PCR |
| (SRNS, NPHS): ID098 | (SRNS, NPHS): ID098 | Molecular Diagnostics / PCR |
| (WMS): ID230 | (WMS): ID230 | Molecular Diagnostics / PCR |
| (WMS2) | (WMS2) | Molecular Diagnostics / PCR |
| (WWS, MDDGA): ID178 | (WWS, MDDGA): ID178 | Molecular Diagnostics / PCR |
| (patUPD14): | (patUPD14): | Molecular Diagnostics / PCR |
| (rs10455872, rs3798220) | (rs10455872, rs3798220) | Molecular Diagnostics / PCR |
| 3-Methylglutaconazidurie (MGCA): | 3-Methylglutaconazidurie (MGCA): | Molecular Diagnostics / PCR |
| 3M-Syndrom (3M): ID214 | 3M-Syndrom (3M): ID214 | Molecular Diagnostics / PCR |
| ABCD1 | ABCD1 | Molecular Diagnostics / PCR |
| AKT1 | AKT1 | Molecular Diagnostics / PCR |
| ALDH7A1 | ALDH7A1 | Molecular Diagnostics / PCR |
| AMHR2 | AMHR2 | Molecular Diagnostics / PCR |
| APC-Resistenz (THPH2) | APC-Resistenz (THPH2) | Molecular Diagnostics / PCR |
| APOA5 | APOA5: Exon 2, 3, 4; Familiäre | Molecular Diagnostics / PCR |
| APOB, PCSK9, LDLRAP1 | APOB, PCSK9, LDLRAP1 | Molecular Diagnostics / PCR |
| APOC2 | APOC2 | Molecular Diagnostics / PCR |
| APOC2, GPD1, LMF1, LPL | APOC2, GPD1, LMF1, LPL | Molecular Diagnostics / PCR |
| AQP2 | AQP2 | Molecular Diagnostics / PCR |
| AS-Chromosomenregion | AS-Chromosomenregion | Molecular Diagnostics / PCR |
| ATP1A2 | ATP1A2 | Molecular Diagnostics / PCR |
| AV-Block, progressiver (PFHB1A) | AV-Block, progressiver (PFHB1A) | Molecular Diagnostics / PCR |
| AVPR2 | AVPR2 | Molecular Diagnostics / PCR |
| AZF-Chromosomenregionen | AZF-Chromosomenregionen | Molecular Diagnostics / PCR |
| Absence-Epilepsie (JAE, CAE): | Absence-Epilepsie (JAE, CAE): | Molecular Diagnostics / PCR |
| Acanthosis nigricans (CAN) | Acanthosis nigricans (CAN) | Molecular Diagnostics / PCR |
| Achondroplasie (ACH) | Achondroplasie (ACH) | Molecular Diagnostics / PCR |
| Achromatopsie (ACHM) | Achromatopsie (ACHM): ID164 | Molecular Diagnostics / PCR |
| Adams-Oliver-Syndrom (AOS): | Adams-Oliver-Syndrom (AOS): | Molecular Diagnostics / PCR |
| Adipositas mit adrenaler | Adipositas mit adrenaler | Molecular Diagnostics / PCR |
| Adrenale Hyperplasie, Typ III | Adrenale Hyperplasie, Typ III | Molecular Diagnostics / PCR |
| Adrenogenitales-Syndrom (AGS) | Adrenogenitales-Syndrom (AGS) | Molecular Diagnostics / PCR |
| Adrenoleukodystrophie (ALD) | Adrenoleukodystrophie (ALD) | Molecular Diagnostics / PCR |
| Agammaglobilinämie (IGHD3) | Agammaglobilinämie (IGHD3) | Molecular Diagnostics / PCR |
| Aicardi-Goutiéres-Syndrom (AGS): | Aicardi-Goutiéres-Syndrom (AGS): | Molecular Diagnostics / PCR |
| Akromikrische Dysplasie | Akromikrische Dysplasie | Molecular Diagnostics / PCR |
| Aktivitätsmangel (677C>T) | Aktivitätsmangel (677C>T) | Molecular Diagnostics / PCR |
| Alagille-Syndrom (ALGS): ID112 | Alagille-Syndrom (ALGS): ID112 | Molecular Diagnostics / PCR |
| Albinismus | Albinismus: ID175 | Molecular Diagnostics / PCR |
| Alport-Syndrom (ATS) | Alport-Syndrom (ATS) | Molecular Diagnostics / PCR |
| Alternierende Hemiplegie des | Alternierende Hemiplegie des | Molecular Diagnostics / PCR |
| Altersbedingte | Altersbedingte | Molecular Diagnostics / PCR |
| Alzheimer-Krankheit (AD): ID157 | Alzheimer-Krankheit (AD): ID157 | Molecular Diagnostics / PCR |
| Alzheimer-Krankheit 2 (AD2) | Alzheimer-Krankheit 2 (AD2) | Molecular Diagnostics / PCR |
| Amelogenesis imperfecta (AI): | Amelogenesis imperfecta (AI): | Molecular Diagnostics / PCR |
| Androgen-Insensitivität (AIS) | Androgen-Insensitivität (AIS) | Molecular Diagnostics / PCR |
| Androgen-Insensitivität, partielle | Androgen-Insensitivität, partielle | Molecular Diagnostics / PCR |
| Anophthalmus: ID263 | Anophthalmus: ID263 | Molecular Diagnostics / PCR |
| Anosmie (KAL, HH): ID170 | Anosmie (KAL, HH): ID170 | Molecular Diagnostics / PCR |
| Antley-Bixler-Syndrom (ABS2) | Antley-Bixler-Syndrom (ABS2) | Molecular Diagnostics / PCR |
| Aortenbeteiligung: ID137 | Aortenbeteiligung: ID137 | Molecular Diagnostics / PCR |
| Apert-Syndrom | Apert-Syndrom | Molecular Diagnostics / PCR |
| Arachnodaktylie: ID124 | Arachnodaktylie: ID124 | Molecular Diagnostics / PCR |
| Argininbernsteinsäure-Krankheit | Argininbernsteinsäure-Krankheit | Molecular Diagnostics / PCR |
| Arterienkalzifikation, generalisierte infantile (GACI2) | Arterienkalzifikation, generalisierte infantile (GACI2) | Molecular Diagnostics / PCR |
| Arthrochalasie-Typ (EDSARTH2) | Arthrochalasie-Typ (EDSARTH2) | Molecular Diagnostics / PCR |
| Arthrogrypose | Arthrogrypose: ID200 | Molecular Diagnostics / PCR |
| Ataxia teleangiectatica (AT) | Ataxia teleangiectatica (AT) | Molecular Diagnostics / PCR |
| Atriumseptumdefekt (ASD5) | Atriumseptumdefekt (ASD5) | Molecular Diagnostics / PCR |
| Atriumseptumdefekt und | Atriumseptumdefekt und | Molecular Diagnostics / PCR |
| Atypisches hämolytisch-urämisches | Atypisches hämolytisch-urämisches | Molecular Diagnostics / PCR |
| Augensegmentes (ASGD): ID182 | Augensegmentes (ASGD): ID182 | Molecular Diagnostics / PCR |
| Ausschluss mĂĽtterlicher | Ausschluss mĂĽtterlicher | Molecular Diagnostics / PCR |
| Autismus-Spektrum-Störung: | Autismus-Spektrum-Störung: | Molecular Diagnostics / PCR |
| Autosomal dominante Adipositas | Autosomal dominante Adipositas | Molecular Diagnostics / PCR |
| BBS10 | BBS10 | Molecular Diagnostics / PCR |
| BRCA1 | BRCA1 | Molecular Diagnostics / PCR |
| BRCA1 , BRCA2 , BRIP1, CHEK2 | BRCA1 , BRCA2 , BRIP1, CHEK2 | Molecular Diagnostics / PCR |
| BRCA1/BRCA2: ID001 | BRCA1/BRCA2: ID001 | Molecular Diagnostics / PCR |
| BRIP1 | BRIP1 | Molecular Diagnostics / PCR |
| Bardet-Biedel-Syndrom (BBS10) | Bardet-Biedel-Syndrom (BBS10) | Molecular Diagnostics / PCR |
| Bardet-Biedl-Syndrom (BBS): | Bardet-Biedl-Syndrom (BBS): | Molecular Diagnostics / PCR |
| Bart-Pumphrey-Syndrome (BAPS) | Bart-Pumphrey-Syndrome (BAPS) | Molecular Diagnostics / PCR |
| Bartter-Syndrom (BARTS): ID156 | Bartter-Syndrom (BARTS): ID156 | Molecular Diagnostics / PCR |
| Basalzellenkrebs (BCC7) | Basalzellenkrebs (BCC7) | Molecular Diagnostics / PCR |
| Basalzellnävus-Syndrom (BCNS): | Basalzellnävus-Syndrom (BCNS): | Molecular Diagnostics / PCR |
| Becker-Muskeldystrophie (DMD) | Becker-Muskeldystrophie (DMD): | Molecular Diagnostics / PCR |
| Beckwith-Wiedemann Syndrom | Beckwith-Wiedemann-Syndrom: | Molecular Diagnostics / PCR |
| Benigne familiäre | Hämaturie, benigne familiäre | Molecular Diagnostics / PCR |
| Benigne neonatale und infantile | Benigne neonatale und infantile | Molecular Diagnostics / PCR |
| Beta-Thalassämie, dominant mit | Beta-Thalassämie, dominant mit | Molecular Diagnostics / PCR |
| Bindegewebserkrankungen mit | Bindegewebserkrankungen mit | Molecular Diagnostics / PCR |
| Biotinidase-Mangel | Biotinidase-Mangel | Molecular Diagnostics / PCR |
| Blepharocheilodontisches | Blepharocheilodontisches | Molecular Diagnostics / PCR |
| Brachydaktylie (BD): ID218 | Brachydaktylie (BD): ID218 | Molecular Diagnostics / PCR |
| Brugada-Syndrom (BRGDA): ID014 | Brugada-Syndrom (BRGDA): ID014 | Molecular Diagnostics / PCR |
| Brugada-Syndrom (BRGDA1) | Brugada-Syndrom (BRGDA1) | Molecular Diagnostics / PCR |
| Brugada-Syndrom (BRGDA2) | Brugada-Syndrom (BRGDA2) | Molecular Diagnostics / PCR |
| Brugada-Syndrom (BRGDA3) | Brugada-Syndrom (BRGDA3) | Molecular Diagnostics / PCR |
| Brugada-Syndrom (BRGDA4) | Brugada-Syndrom (BRGDA4) | Molecular Diagnostics / PCR |
| Brugada-Syndrom (BRGDA6) | Brugada-Syndrom (BRGDA6) | Molecular Diagnostics / PCR |
| Brustkrebs | Prädisposition für Brustkrebs | Molecular Diagnostics / PCR |
| Brustkrebs (HBOC): Gene: | Brustkrebs (HBOC): Gene: | Molecular Diagnostics / PCR |
| Brustkrebs, lobulärer | Brustkrebs, lobulärer | Molecular Diagnostics / PCR |
| Budd-Chiari-Syndrom (BDCHS) | Budd-Chiari-Syndrom (BDCHS) | Molecular Diagnostics / PCR |
| CADASIL und CARASIL: ID167 | CADASIL und CARASIL: ID167 | Molecular Diagnostics / PCR |
| CATSHL-Syndrom (CATSHLS) | CATSHL-Syndrom (CATSHLS) | Molecular Diagnostics / PCR |
| CBFB/MYH11 | CBFB/MYH11 | Molecular Diagnostics / PCR |
| CDH1 | CDH1 | Molecular Diagnostics / PCR |
| COL1A1 | COL1A1 | Molecular Diagnostics / PCR |
| COL1A2 | COL1A2 | Molecular Diagnostics / PCR |
| COL4A3 | COL4A3 | Molecular Diagnostics / PCR |
| CYP21A2 | CYP21A2 | Molecular Diagnostics / PCR |
| Caffey-Krankheit (CAFYD) | Caffey-Krankheit (CAFYD) | Molecular Diagnostics / PCR |
| Charcot-Marie-Tooth-Krankheit, Typ VI (HMSN6A) | Charcot-Marie-Tooth-Krankheit, Typ VI (HMSN6A) | Molecular Diagnostics / PCR |
| Charcot-Marie-Tooth-Krankheit, axonal (CMT2J) | Charcot-Marie-Tooth-Krankheit, axonal (CMT2J) | Molecular Diagnostics / PCR |
| Charcot-Marie-Tooth-Krankheit, demyelinisierend (CMT1B) | Charcot-Marie-Tooth-Krankheit, demyelinisierend (CMT1B) | Molecular Diagnostics / PCR |
| Charcot-Marie-Tooth-Krankheit, demyelinisierend (CMT1E) | Charcot-Marie-Tooth-Krankheit, demyelinisierend (CMT1E) | Molecular Diagnostics / PCR |
| Chorea Huntington (HD)-HTT | Chorea Huntington (HD)-HTT | Molecular Diagnostics / PCR |
| Choreatiforme | Choreatiforme | Molecular Diagnostics / PCR |
| Choreatiforme Bewegungsstörungen | Choreatiforme Bewegungsstörungen | Molecular Diagnostics / PCR |
| Clinical Exome Sequencing | Clinical Exome Sequencing | Molecular Diagnostics / PCR |
| Clouston-Syndrom | Clouston-Syndrom | Molecular Diagnostics / PCR |
| Coenzym-Q10-Mangel (COQ10D): | Coenzym-Q10-Mangel (COQ10D): | Molecular Diagnostics / PCR |
| Coffin-Siris-Syndrom (CSS): ID118 | Coffin-Siris-Syndrom (CSS): ID118 | Molecular Diagnostics / PCR |
| Cornelia-de-Lange-Syndrom: NIPBL, DXS423E / SMC1A, SMC3, RAD21, HDAC8, AFF4, SETD5, KMT2A, MAU2, BRD4 | Cornelia-de-Lange-Syndrom: NIPBL, DXS423E / SMC1A, SMC3, RAD21, HDAC8, AFF4, SETD5, KMT2A, MAU2, BRD4 | Molecular Diagnostics / PCR |
| Cowden-Syndrom (CWS): ID075 | Cowden-Syndrom (CWS): ID075 | Molecular Diagnostics / PCR |
| Cowden-Syndrom (CWS1) | Cowden-Syndrom (CWS1) | Molecular Diagnostics / PCR |
| Cowden-Syndrom (CWS5) | Cowden-Syndrom (CWS5) | Molecular Diagnostics / PCR |
| Cowden-Syndrom (CWS7) | Cowden-Syndrom (CWS7) | Molecular Diagnostics / PCR |
| Cowden-Syndrom(CWS6) | Cowden-Syndrom(CWS6) | Molecular Diagnostics / PCR |
| Crigler-Najjar-Syndrom | Crigler-Najjar-Syndrom | Molecular Diagnostics / PCR |
| Crouzon-Syndrom | Crouzon-Syndrom | Molecular Diagnostics / PCR |
| Crouzon-Syndrom mit | Crouzon-Syndrom mit | Molecular Diagnostics / PCR |
| Cutis laxa (ARCL, ADCL): ID109 | Cutis laxa (ARCL, ADCL): ID109 | Molecular Diagnostics / PCR |
| Cystinurie | Homocystinurie: ID191 | Molecular Diagnostics / PCR |
| DIN EN 145 (2000-06) | ID145 | Molecular Diagnostics / PCR |
| DIN EN 152 (2012-02) | ID152 | Molecular Diagnostics / PCR |
| DIN EN 161 (2013) | ID161 | Molecular Diagnostics / PCR |
| DIN EN 168 (2002-04) | ID168 | Molecular Diagnostics / PCR |
| DIN EN 174 (2001-07) | ID174 | Molecular Diagnostics / PCR |
| DIN EN 20-1 (1992-09) | ID201 | Molecular Diagnostics / PCR |
| DIN EN 232 (2013-01) | ID232 | Molecular Diagnostics / PCR |
| DIN EN 257 (2010) | ID257 | Molecular Diagnostics / PCR |
| DIN EN 280 | ID280 | Molecular Diagnostics / PCR |
| DIN EN ISO 177 (2017-05) | ID177 | Molecular Diagnostics / PCR |
| DNAH5 | DNAH5 | Molecular Diagnostics / PCR |
| DNAI1 | DNAI1 | Molecular Diagnostics / PCR |
| Defekt (THPH1) (20210G>A) | Defekt (THPH1) (20210G>A) | Molecular Diagnostics / PCR |
| Defizienz der mitochondrialen | Defizienz der mitochondrialen | Molecular Diagnostics / PCR |
| Deletion; Angelman-Syndrom | Deletion; Angelman-Syndrom | Molecular Diagnostics / PCR |
| Desmoid-Fibromatose, hereditäre | Desmoid-Fibromatose, hereditäre | Molecular Diagnostics / PCR |
| Diabetes mellitus, permanenter | Diabetes mellitus, permanenter | Molecular Diagnostics / PCR |
| Diabetes mellitus, transienter | Diabetes mellitus, transienter | Molecular Diagnostics / PCR |
| Dilatative Kardiomyopathie | Dilatative Kardiomyopathie | Molecular Diagnostics / PCR |
| Distale Arthrogryposis (DA): ID196 | Distale Arthrogryposis (DA): ID196 | Molecular Diagnostics / PCR |
| Distale Myopathie (MPD1) | Distale Myopathie (MPD1) | Molecular Diagnostics / PCR |
| Distale motorische Neuropathie | Distale motorische Neuropathie | Molecular Diagnostics / PCR |
| Duchenne-Muskeldytrophie und | Duchenne-Muskeldytrophie und | Molecular Diagnostics / PCR |
| Dyserythropoietische Anämie, kongenitale (CDAN2) | Dyserythropoietische Anämie, kongenitale (CDAN2) | Molecular Diagnostics / PCR |
| Dysgenesie des vorderen | Dysgenesie des vorderen | Molecular Diagnostics / PCR |
| Dysplasie (ARVD, ARVC): ID010 | Dysplasie (ARVD, ARVC): ID010 | Molecular Diagnostics / PCR |
| Dysplasie. X-chromosomal | Dysplasie. X-chromosomal | Molecular Diagnostics / PCR |
| Dystonie (DYT): ID128 | Dystonie (DYT): ID128 | Molecular Diagnostics / PCR |
| Dystroglykanopathie (MDDG): | Dystroglykanopathie (MDDG): | Molecular Diagnostics / PCR |
| Dystrophie (COD, CORD): ID101 | Dystrophie (COD, CORD): ID101 | Molecular Diagnostics / PCR |
| Dystrophin-Gen, Muskeldystrophie | Dystrophin-Gen, Muskeldystrophie | Molecular Diagnostics / PCR |
| EBM 11351/11352: ID045 | EBM 11351/11352: ID045 | Molecular Diagnostics / PCR |
| EBM 11444/11445: ID022 | EBM 11444/11445: ID022 | Molecular Diagnostics / PCR |
| EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2 | EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2 | Molecular Diagnostics / PCR |
| Ectopia lentis (ECTOL1) | Ectopia lentis (ECTOL1) | Molecular Diagnostics / PCR |
| Ehlers-Danlos-Syndrom (EDS): | Ehlers-Danlos-Syndrom (EDS): | Molecular Diagnostics / PCR |
| Ehlers-Danlos-Syndrom, Arthrochalasie-Typ (EDSARTH1) | Ehlers-Danlos-Syndrom, Arthrochalasie-Typ (EDSARTH1) | Molecular Diagnostics / PCR |
| Eierstockkrebs (BROVCA1) | Eierstockkrebs (BROVCA1) | Molecular Diagnostics / PCR |
| Eierstockkrebs (BROVCA2) | Eierstockkrebs (BROVCA2) | Molecular Diagnostics / PCR |
| Eierstockkrebs (BROVCA3) | Eierstockkrebs (BROVCA3) | Molecular Diagnostics / PCR |
| Eierstockkrebs (BROVCA4) | Eierstockkrebs (BROVCA4) | Molecular Diagnostics / PCR |
| Einschlusskörpern | Einschlusskörpern | Molecular Diagnostics / PCR |
| Eisenablagerung im Gehirn | Eisenablagerung im Gehirn | Molecular Diagnostics / PCR |
| Eisenablagerungen (NBIA): ATP13A2, C19orf12, CCNF, COASY, CP, DCAF17, FA2H, FTL, PANK2, PLA2G6, WDR45 | Eisenablagerungen (NBIA): ATP13A2, C19orf12, CCNF, COASY, CP, DCAF17, FA2H, FTL, PANK2, PLA2G6, WDR45 | Molecular Diagnostics / PCR |
| Ektodermale Dysplasie (ECTD): | Ektodermale Dysplasie (ECTD): | Molecular Diagnostics / PCR |
| Elliptozytose (EL): ID203 | Elliptozytose (EL): ID203 | Molecular Diagnostics / PCR |
| Emery-Dreifuss Muskeldystrophie | Emery-Dreifuss-Muskeldystrophie | Molecular Diagnostics / PCR |
| Emery-Dreifuss-Muskeldystrophie, autosomal-dominant (EDMD2) | Emery-Dreifuss-Muskeldystrophie, autosomal-dominant (EDMD2) | Molecular Diagnostics / PCR |
| Endokrine arterielle Hypertonie: | Endokrine arterielle Hypertonie: | Molecular Diagnostics / PCR |
| Entwicklungsbedingte und | Entwicklungsbedingte und | Molecular Diagnostics / PCR |
| Entwicklungsstörung | Entwicklungsstörung | Molecular Diagnostics / PCR |
| Epidermolysis bullosa (EB): ID198 | Epidermolysis bullosa (EB): ID198 | Molecular Diagnostics / PCR |
| Epilepsie mit schwerer | Epilepsie mit schwerer | Molecular Diagnostics / PCR |
| Epilepsie, Pyridoxin-abhängige | Epilepsie, Pyridoxin-abhängige | Molecular Diagnostics / PCR |
| Epilepsie, fokale Form: ID208 | Epilepsie, fokale Form: ID208 | Molecular Diagnostics / PCR |
| Epileptische Enzephalopathie | Epileptische Enzephalopathie | Molecular Diagnostics / PCR |
| Episodische Ataxie (EA): ID184 | Episodische Ataxie (EA): ID184 | Molecular Diagnostics / PCR |
| Episodisches Schmerzsyndrom | Episodisches Schmerzsyndrom | Molecular Diagnostics / PCR |
| Epitheliom, Typ Ferguson-Smith | Epitheliom, Typ Ferguson-Smith | Molecular Diagnostics / PCR |
| Erythrozytose (ECYT): ID138 | Erythrozytose (ECYT): ID138 | Molecular Diagnostics / PCR |
| Erythrozytose (ECYT6) | Erythrozytose (ECYT6) | Molecular Diagnostics / PCR |
| Essentieller Tremor (ETM): ID195 | Essentieller Tremor (ETM): ID195 | Molecular Diagnostics / PCR |
| FBN1 | FBN1 | Molecular Diagnostics / PCR |
| FG-Syndrom (FGS): ID215 | FG-Syndrom (FGS): ID215 | Molecular Diagnostics / PCR |
| Faktor V-Leiden (1691G>A) | Faktor V-Leiden (1691G>A) | Molecular Diagnostics / PCR |
| Faktor-V-Mangel | Faktor-V-Mangel | Molecular Diagnostics / PCR |
| Fallot-Tetralogie (TOF): ID144 | Fallot-Tetralogie (TOF): ID144 | Molecular Diagnostics / PCR |
| Familiäre Adenomatöse Polyposis | Familiäre Adenomatöse Polyposis | Molecular Diagnostics / PCR |
| Familiäre partielle Lipodystrophie | Familiäre partielle Lipodystrophie | Molecular Diagnostics / PCR |
| Familiäres Kammerflimmern (VF1) | Familiäres Kammerflimmern (VF1) | Molecular Diagnostics / PCR |
| Familiäres Mittelmeerfieber, autosomal-rezessiv | Familiäres Mittelmeerfieber, autosomal-rezessiv | Molecular Diagnostics / PCR |
| Familiäres Vorhofflimmern | Familiäres Vorhofflimmern | Molecular Diagnostics / PCR |
| Fanconi-Anämie (FANC): ID043 | Fanconi-Anämie (FANC): ID043 | Molecular Diagnostics / PCR |
| Fanconi-Anämie (FANCD1) | Fanconi-Anämie (FANCD1) | Molecular Diagnostics / PCR |
| Fanconi-Anämie (FANCJ) | Fanconi-Anämie (FANCJ) | Molecular Diagnostics / PCR |
| Fanconi-Anämie (FANCN) | Fanconi-Anämie (FANCN) | Molecular Diagnostics / PCR |
| Fanconi-Anämie (FANCO) | Fanconi-Anämie (FANCO) | Molecular Diagnostics / PCR |
| Fanconi-Anämie (FANCS) | Fanconi-Anämie (FANCS) | Molecular Diagnostics / PCR |
| Fehlbildungssyndrome mit | Fehlbildungssyndrome mit | Molecular Diagnostics / PCR |
| Fetale Akinesie-Sequenz (FADS): | Fetale Akinesie-Sequenz (FADS): | Molecular Diagnostics / PCR |
| Fettstoffwechselstörung durch | Fettstoffwechselstörung durch | Molecular Diagnostics / PCR |
| Fieberkrämpfen plus | Fieberkrämpfen plus | Molecular Diagnostics / PCR |
| Fokal segmentale | Fokal segmentale | Molecular Diagnostics / PCR |
| Form (HYPT): ID146 | Form (HYPT): ID146 | Molecular Diagnostics / PCR |
| Fragiles X-Syndrom (FraX) | Fragiles X-Syndrom (FraX) | Molecular Diagnostics / PCR |
| Fragiles X-Tremor/Ataxie-Syndrom | Fragiles X-Tremor/Ataxie-Syndrom | Molecular Diagnostics / PCR |
| Fruktose-Intoleranz, hereditäre | Fruktose-Intoleranz, hereditäre | Molecular Diagnostics / PCR |
| Fuchs-Endotheldystrophie (FECD): | Fuchs-Endotheldystrophie (FECD): | Molecular Diagnostics / PCR |
| GJB1 | GJB1 | Molecular Diagnostics / PCR |
| GJB2, GJB6 | GJB2, GJB6 | Molecular Diagnostics / PCR |
| GPIHBP1 | GPIHBP1 | Molecular Diagnostics / PCR |
| Galloway-Mowat-Syndrom | Galloway-Mowat-Syndrom | Molecular Diagnostics / PCR |
| Gardner-Syndrom (GS) | Gardner-Syndrom (GS) | Molecular Diagnostics / PCR |
| Gastrisches Adenokarzinom und | Gastrisches Adenokarzinom und | Molecular Diagnostics / PCR |
| Gastrointestinaler Stromatumor | Gastrointestinaler Stromatumor | Molecular Diagnostics / PCR |
| Gaumenspalte (OFC): ID266 | Gaumenspalte (OFC): ID266 | Molecular Diagnostics / PCR |
| Gebärmutterkrebs | Gebärmutterkrebs | Molecular Diagnostics / PCR |
| Gehirnfehlbildungen (CDCBM): | Gehirnfehlbildungen (CDCBM): | Molecular Diagnostics / PCR |
| Geleophysische Dysplasie | Geleophysische Dysplasie | Molecular Diagnostics / PCR |
| Generalisierte Epilepsie mit | Generalisierte Epilepsie mit | Molecular Diagnostics / PCR |
| Generalisierte Epilepsie: ID040 | Generalisierte Epilepsie: ID040 | Molecular Diagnostics / PCR |
| Geschlechtsentwicklung (DSD): | Geschlechtsentwicklung (DSD): | Molecular Diagnostics / PCR |
| Gilbert-Syndrom | Gilbert-Syndrom | Molecular Diagnostics / PCR |
| Glaukom (GLC): ID275 | Glaukom (GLC): ID275 | Molecular Diagnostics / PCR |
| GliedergĂĽrtelmuskeldystrophie | GliedergĂĽrtelmuskeldystrophie | Molecular Diagnostics / PCR |
| Glomerulosklerose (FSGS) und | Glomerulosklerose (FSGS) und | Molecular Diagnostics / PCR |
| Glukokortikoid-Mangel (GCCD): | Glukokortikoid-Mangel (GCCD): | Molecular Diagnostics / PCR |
| Glut1-Defizienz-Syndrom | Glut1-Defizienz-Syndrom | Molecular Diagnostics / PCR |
| Glycin-Enzephalopathie (GCE) | Glycin-Enzephalopathie (GCE) | Molecular Diagnostics / PCR |
| Glykogenspeicherkrankheit (GSD): | Glykogenspeicherkrankheit (GSD): | Molecular Diagnostics / PCR |
| Glykogenspeicherkrankheit des | Glykogenspeicherkrankheit des | Molecular Diagnostics / PCR |
| Glykosylierung (CDG): ID035 | Glykosylierung (CDG): ID035 | Molecular Diagnostics / PCR |
| GroĂźwuchssyndrome: ID073 | GroĂźwuchssyndrome: ID073 | Molecular Diagnostics / PCR |
| Guillain-Barre-Syndrom (GBS) | Guillain-Barre-Syndrom (GBS) | Molecular Diagnostics / PCR |
| HBD-/HBB; Delta-Beta-thalassämie | HBD-/HBB; Delta-Beta-thalassämie | Molecular Diagnostics / PCR |
| HDL-Mangel: ID096 | HDL-Mangel: ID096 | Molecular Diagnostics / PCR |
| HID-Syndrom | HID-Syndrom | Molecular Diagnostics / PCR |
| HOXB13 | HOXB13 | Molecular Diagnostics / PCR |
| Heinz-Körper-Anämie | Heinz-Körper-Anämie | Molecular Diagnostics / PCR |
| Hemiplegische Migräne (FHM): | Hemiplegische Migräne (FHM): | Molecular Diagnostics / PCR |
| Hereditäre hämorrhagische | Hereditäre hämorrhagische | Molecular Diagnostics / PCR |
| Hereditäres Medulloblastom | Hereditäres Medulloblastom | Molecular Diagnostics / PCR |
| Hereditäres Pankreaskarzinom | Hereditäres Pankreaskarzinom | Molecular Diagnostics / PCR |
| Hereditäres Phäochromozytom | Hereditäres Phäochromozytom | Molecular Diagnostics / PCR |
| Hereditäres Prostatakarzinom | Hereditäres Prostatakarzinom | Molecular Diagnostics / PCR |
| Hereditäres nicht-polypöses | Hereditäres nicht-polypöses | Molecular Diagnostics / PCR |
| Hereditäres non-polypösen | Hereditäres non-polypösen | Molecular Diagnostics / PCR |
| Herz-Hand-Syndrom, slowenischer Typ | Herz-Hand-Syndrom, slowenischer Typ | Molecular Diagnostics / PCR |
| Herz-Hand-Syndrom: ID165 | Herz-Hand-Syndrom: ID165 | Molecular Diagnostics / PCR |
| Herzens, letal kongenital (GSK) | Herzens, letal kongenital (GSK) | Molecular Diagnostics / PCR |
| Hirnatrophie und | Hirnatrophie und | Molecular Diagnostics / PCR |
| Hirntumor-Polyposis-Syndrom | Hirntumor-Polyposis-Syndrom | Molecular Diagnostics / PCR |
| Holoprosenzephalie (HPE): ID169 | Holoprosenzephalie (HPE): ID169 | Molecular Diagnostics / PCR |
| Huntington-Krankheit (HD) | Huntington-Krankheit (HD) | Molecular Diagnostics / PCR |
| Hydrozephalus (HYC): ID221 | Hydrozephalus (HYC): ID221 | Molecular Diagnostics / PCR |
| Hyper-IgE-Syndrom (HIES): ID240 | Hyper-IgE-Syndrom (HIES): ID240 | Molecular Diagnostics / PCR |
| Hyperbilirubinämie, transiente | Hyperbilirubinämie, transiente | Molecular Diagnostics / PCR |
| Hypercholesterinämie, familiäre | Hypercholesterinämie, familiäre | Molecular Diagnostics / PCR |
| Hyperchylomikronämie | Hyperchylomikronämie | Molecular Diagnostics / PCR |
| Hyperekplexie (HKPX) | Hyperekplexie (HKPX): ID216 | Molecular Diagnostics / PCR |
| Hyperinsulinämische | Hyperinsulinämische | Molecular Diagnostics / PCR |
| Hyperinsulinämische Hypoglykämie | Hyperinsulinämische Hypoglykämie | Molecular Diagnostics / PCR |
| Hyperkalzämie | Hyperkalzämie | Molecular Diagnostics / PCR |
| Hyperlipoproteinämie, Typ IA | Hyperlipoproteinämie, Typ IA | Molecular Diagnostics / PCR |
| Hyperlipoproteinämie, Typ IB | Hyperlipoproteinämie, Typ IB | Molecular Diagnostics / PCR |
| Hyperlipoproteinämie, Typ ID | Hyperlipoproteinämie, Typ ID | Molecular Diagnostics / PCR |
| Hyperlipoproteinämie, Typ III | Hyperlipoproteinämie, Typ III | Molecular Diagnostics / PCR |
| Hyperlipoproteinämie, Typ V | Hyperlipoproteinämie, Typ V | Molecular Diagnostics / PCR |
| Hypertriglyzeridämie | Hypertriglyzeridämie | Molecular Diagnostics / PCR |
| Hypobetalipoproteinämie, familiäre (FHBL1) | Hypobetalipoproteinämie, familiäre (FHBL1) | Molecular Diagnostics / PCR |
| Hypochondroplasie (HCH) | Hypochondroplasie (HCH) | Molecular Diagnostics / PCR |
| Hypoglykämie, Hyperinsulinismus | Hypoglykämie, Hyperinsulinismus | Molecular Diagnostics / PCR |
| Hypoglykämie, familiäre (HHF1) | Hypoglykämie, familiäre (HHF1) | Molecular Diagnostics / PCR |
| Hypoglykämie, familiäre (HHF2) | Hypoglykämie, familiäre (HHF2) | Molecular Diagnostics / PCR |
| Hypomagnesiämie (HOMG): | Hypomagnesiämie (HOMG): | Molecular Diagnostics / PCR |
| Hypomyelinisierende | Hypomyelinisierende | Molecular Diagnostics / PCR |
| Hypospadie, X-chromosomal | Hypospadie, X-chromosomal | Molecular Diagnostics / PCR |
| Hypotrichose, nicht-syndromale | Hypotrichose, nicht-syndromale | Molecular Diagnostics / PCR |
| Hypoventilationssyndrom (CCHS): | Hypoventilationssyndrom (CCHS): | Molecular Diagnostics / PCR |
| Hämogloin-F-Persistenz, hereditäre (HPFH) | Hämogloin-F-Persistenz, hereditäre (HPFH) | Molecular Diagnostics / PCR |
| ID005 | ID005 | Molecular Diagnostics / PCR |
| ID009 | ID009 | Molecular Diagnostics / PCR |
| ID011 | ID011 | Molecular Diagnostics / PCR |
| ID012 | ID012 | Molecular Diagnostics / PCR |
| ID017 | ID017 | Molecular Diagnostics / PCR |
| ID025 | ID025 | Molecular Diagnostics / PCR |
| ID029 | ID029 | Molecular Diagnostics / PCR |
| ID036 | ID036 | Molecular Diagnostics / PCR |
| ID038 | ID038 | Molecular Diagnostics / PCR |
| ID039 | ID039 | Molecular Diagnostics / PCR |
| ID049 | ID049 | Molecular Diagnostics / PCR |
| ID054 | ID054 | Molecular Diagnostics / PCR |
| ID056 | ID056 | Molecular Diagnostics / PCR |
| ID057 | ID057 | Molecular Diagnostics / PCR |
| ID058 | ID058 | Molecular Diagnostics / PCR |
| ID064 | ID064 | Molecular Diagnostics / PCR |
| ID066 | ID066 | Molecular Diagnostics / PCR |
| ID067 | ID067 | Molecular Diagnostics / PCR |
| ID076 | ID076 | Molecular Diagnostics / PCR |
| ID077 | ID077 | Molecular Diagnostics / PCR |
| ID082 | ID082 | Molecular Diagnostics / PCR |
| ID083 | ID083 | Molecular Diagnostics / PCR |
| ID085 | ID085 | Molecular Diagnostics / PCR |
| ID091 | ID091 | Molecular Diagnostics / PCR |
| ID093 | ID093 | Molecular Diagnostics / PCR |
| ID097 | ID097 | Molecular Diagnostics / PCR |
| ID100 | ID100 | Molecular Diagnostics / PCR |
| ID106 | ID106 | Molecular Diagnostics / PCR |
| ID108 | ID108 | Molecular Diagnostics / PCR |
| ID117 | ID117 | Molecular Diagnostics / PCR |
| ID119 | ID119 | Molecular Diagnostics / PCR |
| ID120 | ID120 | Molecular Diagnostics / PCR |
| ID148 | ID148 | Molecular Diagnostics / PCR |
| ID151 | ID151 | Molecular Diagnostics / PCR |
| ID158 | ID158 | Molecular Diagnostics / PCR |
| ID159 | ID159 | Molecular Diagnostics / PCR |
| ID162 | ID162 | Molecular Diagnostics / PCR |
| ID179 | ID179 | Molecular Diagnostics / PCR |
| ID185 | ID185 | Molecular Diagnostics / PCR |
| ID212 | ID212 | Molecular Diagnostics / PCR |
| ID222 | ID222 | Molecular Diagnostics / PCR |
| ID225 | ID225 | Molecular Diagnostics / PCR |
| ID236 | ID236 | Molecular Diagnostics / PCR |
| ID238 | ID238 | Molecular Diagnostics / PCR |
| ID249 | ID249 | Molecular Diagnostics / PCR |
| ID256 | ID256 | Molecular Diagnostics / PCR |
| ID259 | ID259 | Molecular Diagnostics / PCR |
| ID261 | ID261 | Molecular Diagnostics / PCR |
| ID265 | ID265 | Molecular Diagnostics / PCR |
| ID270 | ID270 | Molecular Diagnostics / PCR |
| ID271 | ID271 | Molecular Diagnostics / PCR |
| ID279 | ID279 | Molecular Diagnostics / PCR |
| ID282 | ID282 | Molecular Diagnostics / PCR |
| II-Gen, Gene F5: dbSNP rs6025 | II-Gen, Gene F5: dbSNP rs6025 | Molecular Diagnostics / PCR |
| Ichthyose: ID217 | Ichthyose: ID217 | Molecular Diagnostics / PCR |
| Immunschwäche (IMD34) | Immunschwäche (IMD34) | Molecular Diagnostics / PCR |
| Insuffizienz und roten Haaren | Insuffizienz und roten Haaren | Molecular Diagnostics / PCR |
| Ischämischen Schlaganfall (ICH) | Ischämischen Schlaganfall (ICH) | Molecular Diagnostics / PCR |
| Isovalerianazidämie (IVA) | Isovalerianazidämie (IVA) | Molecular Diagnostics / PCR |
| Jackson-Weiss-Syndrom (JWS) | Jackson-Weiss-Syndrom (JWS) | Molecular Diagnostics / PCR |
| Joubert-Syndrom (JBTS): ID028 | Joubert-Syndrom (JBTS): ID028 | Molecular Diagnostics / PCR |
| KID-Syndrom (KIDAD) | KID-Syndrom (KIDAD) | Molecular Diagnostics / PCR |
| Kabuki-Syndrom (KABUK): ID127 | Kabuki-Syndrom (KABUK): ID127 | Molecular Diagnostics / PCR |
| Kagami-Ogata-Syndrom | Kagami-Ogata-Syndrom | Molecular Diagnostics / PCR |
| Kardiofaziokutanes Syndrom | Kardiofaziokutanes Syndrom | Molecular Diagnostics / PCR |
| Kardiomyopathie (LVNC, NCCM): | Kardiomyopathie (LVNC, NCCM): | Molecular Diagnostics / PCR |
| Kardiomyopathie, restriktiv (RCM): | Kardiomyopathie, restriktiv (RCM): | Molecular Diagnostics / PCR |
| Kartagener-Syndrom | Kartagener-Syndrom | Molecular Diagnostics / PCR |
| Karzinom (ADCC) | Karzinom (ADCC) | Molecular Diagnostics / PCR |
| Katarakt (CTRCT): ID206 | Katarakt (CTRCT): ID206 | Molecular Diagnostics / PCR |
| Katecholaminerge Polymorphe | Katecholaminerge polymorphe | Molecular Diagnostics / PCR |
| Kindesalters (AHC1) | Kindesalters (AHC1) | Molecular Diagnostics / PCR |
| Klippel-Feil-Syndrom (KFS): ID207 | Klippel-Feil-Syndrom (KFS): ID207 | Molecular Diagnostics / PCR |
| Knochenmarkinsuffizienz (BMFS5) | Knochenmarkinsuffizienz (BMFS5) | Molecular Diagnostics / PCR |
| Kolobom, Mikrophthalmus und | Kolobom, Mikrophthalmus und | Molecular Diagnostics / PCR |
| Kolorektales Karzinom | Kolorektales Karzinom | Molecular Diagnostics / PCR |
| Kolorektales Karzinom (CRC) | Kolorektales Karzinom (CRC) | Molecular Diagnostics / PCR |
| Kolorektales Karzinom mit | Kolorektales Karzinom mit | Molecular Diagnostics / PCR |
| Kombinierte Hyperlipidämie, familiäre (FCHL3) | Kombinierte Hyperlipidämie, familiäre (FCHL3) | Molecular Diagnostics / PCR |
| Kombinierte Hyperlipidämie: | Kombinierte Hyperlipidämie: | Molecular Diagnostics / PCR |
| Kombinierter Defekt der | Kombinierter Defekt der | Molecular Diagnostics / PCR |
| Kombinierter Lipasemangel | Kombinierter Lipasemangel | Molecular Diagnostics / PCR |
| Komplexe I bis V (MCDN): ID074 | Komplexe I bis V (MCDN): ID074 | Molecular Diagnostics / PCR |
| Kongenitale Anomalien der | Kongenitale Anomalien der | Molecular Diagnostics / PCR |
| Kongenitale Muskeldystrophie | Kongenitale Muskeldystrophie | Molecular Diagnostics / PCR |
| Kongenitale Strukturmyopathie: | Kongenitale Strukturmyopathie: | Molecular Diagnostics / PCR |
| Kongenitale Störung der | Kongenitale Störung der | Molecular Diagnostics / PCR |
| Kongenitale adrenale Hyperplasie | Kongenitale adrenale Hyperplasie | Molecular Diagnostics / PCR |
| Kongenitale bilaterale Aplasie | Kongenitale bilaterale Aplasie | Molecular Diagnostics / PCR |
| Kongenitale extraokuläre | Kongenitale extraokuläre | Molecular Diagnostics / PCR |
| Kongenitale isolierte Herzfehler: | Kongenitale isolierte Herzfehler: | Molecular Diagnostics / PCR |
| Kongenitale stationäre | Kongenitale stationäre | Molecular Diagnostics / PCR |
| Kongenitale syndromale | Kongenitale syndromale | Molecular Diagnostics / PCR |
| Kongenitales Myasthenes | Kongenitales myasthenes | Molecular Diagnostics / PCR |
| Kongenitales zentrales | Kongenitales zentrales | Molecular Diagnostics / PCR |
| Konotrunkale Herzfehlbildung | Konotrunkale Herzfehlbildung | Molecular Diagnostics / PCR |
| Kontamination (AMK) | Kontamination (AMK) | Molecular Diagnostics / PCR |
| Kontraktursyndrom (LCCS): ID197 | Kontraktursyndrom (LCCS): ID197 | Molecular Diagnostics / PCR |
| Kortikale Dysplasie mit weiteren | Kortikale Dysplasie mit weiteren | Molecular Diagnostics / PCR |
| Krampfanfälle (BFNS, BFIS): ID134 | Krampfanfälle (BFNS, BFIS): ID134 | Molecular Diagnostics / PCR |
| Kraniosynostose (CRS): ID224 | Kraniosynostose (CRS): ID224 | Molecular Diagnostics / PCR |
| Krankheit (DMC) | Krankheit (DMC) | Molecular Diagnostics / PCR |
| Krebssyndrom (MMRCS1) | Krebssyndrom (MMRCS1) | Molecular Diagnostics / PCR |
| Krebssyndrom (MMRCS2) | Krebssyndrom (MMRCS2) | Molecular Diagnostics / PCR |
| Krebssyndrom (MMRCS3) | Krebssyndrom (MMRCS3) | Molecular Diagnostics / PCR |
| Krebssyndrom (MMRCS4) | Krebssyndrom (MMRCS4) | Molecular Diagnostics / PCR |
| Kurzrippen-Thoraxdysplasie mit | Kurzrippen-Thoraxdysplasie mit | Molecular Diagnostics / PCR |
| Kutanes malignes Melanom | Kutanes malignes Melanom | Molecular Diagnostics / PCR |
| LADD-Syndrom (LADD) | LADD-Syndrom (LADD) | Molecular Diagnostics / PCR |
| LDL-Mangel: ID094 | LDL-Mangel: ID094 | Molecular Diagnostics / PCR |
| LEOPARD-Syndrom (LPRD1) | LEOPARD-Syndrom (LPRD1) | Molecular Diagnostics / PCR |
| LEOPARD-Syndrom (LPRD2) | LEOPARD-Syndrom (LPRD2) | Molecular Diagnostics / PCR |
| LEOPARD-Syndrom (LPRD3) | LEOPARD-Syndrom (LPRD3) | Molecular Diagnostics / PCR |
| LMF1 | LMF1 | Molecular Diagnostics / PCR |
| Laktose-Intoleranz, adulter Typ | Laktose-Intoleranz, adulter Typ | Molecular Diagnostics / PCR |
| Langer mesomele Dysplasie (LMD) | Langer mesomele Dysplasie (LMD) | Molecular Diagnostics / PCR |
| Lebersche kongenitale Amaurose | Lebersche kongenitale Amaurose | Molecular Diagnostics / PCR |
| Leri-Weill-Dyschondrosteose | Leri-Weill-Dyschondrosteose | Molecular Diagnostics / PCR |
| Letales kongenitales | Letales kongenitales | Molecular Diagnostics / PCR |
| Leukodystrophie (HLD): ID277 | Leukodystrophie (HLD): ID277 | Molecular Diagnostics / PCR |
| Leukodystrophien und | Leukodystrophien und | Molecular Diagnostics / PCR |
| Leukämie, juvenile | Leukämie, juvenile | Molecular Diagnostics / PCR |
| Lhermitte-Duclos-Syndrom (LDD) | Lhermitte-Duclos-Syndrom (LDD) | Molecular Diagnostics / PCR |
| Li-Fraumeni-Syndrom (LFS) | Li-Fraumeni-Syndrom (LFS) | Molecular Diagnostics / PCR |
| Li-Fraumeni-Syndrom (LFS2) | Li-Fraumeni-Syndrom (LFS2) | Molecular Diagnostics / PCR |
| Lipodystrophie, familiäre | Lipodystrophie, familiäre | Molecular Diagnostics / PCR |
| Lipoprotein(a)-Erhöhung | Lipoprotein(a)-Erhöhung | Molecular Diagnostics / PCR |
| Lipoprotein-Glomerulopathie | Lipoprotein-Glomerulopathie | Molecular Diagnostics / PCR |
| Lippen-, Kiefer- und | Lippen-, Kiefer- und | Molecular Diagnostics / PCR |
| Lissenzephalie (LIS): ID133 | Lissenzephalie (LIS): ID133 | Molecular Diagnostics / PCR |
| Loeys-Dietz-Syndrom (LDS) und | Loeys-Dietz-Syndrom (LDS) und | Molecular Diagnostics / PCR |
| Loeys-Dietz-Syndrom (LDS1) | Loeys-Dietz-Syndrom (LDS1) | Molecular Diagnostics / PCR |
| Loeys-Dietz-Syndrom (LDS2) | Loeys-Dietz-Syndrom (LDS2) | Molecular Diagnostics / PCR |
| Loeys-Dietz-Syndrom (LDS3) | Loeys-Dietz-Syndrom (LDS3) | Molecular Diagnostics / PCR |
| Loeys-Dietz-Syndrom (LDS4) | Loeys-Dietz-Syndrom (LDS4) | Molecular Diagnostics / PCR |
| Long QT-Syndrom (LQT): ANK2, KCNE1, KCNE2, KCNH2, KCNQ1, SCN5A, AKAP9, CACNA1C, CALM1, CAV3, KCNE3, KCNJ2, KCNJ5, RYR2, SCN4B, SNTA1, TRDN | Long QT-Syndrom (LQT): ANK2, KCNE1, KCNE2, KCNH2, KCNQ1, SCN5A, AKAP9, CACNA1C, CALM1, CAV3, KCNE3, KCNJ2, KCNJ5, RYR2, SCN4B, SNTA1, TRDN | Molecular Diagnostics / PCR |
| Long-QT-Syndrom (LQT1) | Long-QT-Syndrom (LQT1) | Molecular Diagnostics / PCR |
| Long-QT-Syndrom (LQT2) | Long-QT-Syndrom (LQT2) | Molecular Diagnostics / PCR |
| Long-QT-Syndrom (LQT3) | Long-QT-Syndrom (LQT3) | Molecular Diagnostics / PCR |
| Long-QT-Syndrom (LQT5) | Long-QT-Syndrom (LQT5) | Molecular Diagnostics / PCR |
| Long-QT-Syndrom (LQT6) | Long-QT-Syndrom (LQT6) | Molecular Diagnostics / PCR |
| Long-QT-Syndrom (LQT8) | Long-QT-Syndrom (LQT8) | Molecular Diagnostics / PCR |
| Lopes-Maciel-Rodan-Syndrom | Lopes-Maciel-Rodan-Syndrom | Molecular Diagnostics / PCR |
| Lungenkarzinom: EGF-Rezeptor | Lungenkarzinom: EGF-Rezeptor | Molecular Diagnostics / PCR |
| Lynch-Syndrom (HNPCC): ID002 | Lynch-Syndrom (HNPCC): ID002 | Molecular Diagnostics / PCR |
| Lynch-Syndrom; MLH1- | Lynch-Syndrom; MLH1- | Molecular Diagnostics / PCR |
| MASS-Syndrom | MASS-Syndrom | Molecular Diagnostics / PCR |
| MCM6 (LCT enhancer) | MCM6 (LCT enhancer) | Molecular Diagnostics / PCR |
| MFN2 | MFN2 | Molecular Diagnostics / PCR |
| MODY-Diabetes | MODY-Diabetes | Molecular Diagnostics / PCR |
| MODY-Diabetes (MODY13) | MODY-Diabetes (MODY13) | Molecular Diagnostics / PCR |
| MSH6 | MSH6 | Molecular Diagnostics / PCR |
| Magenkarzinom, hereditäres | Magenkarzinom, hereditäres | Molecular Diagnostics / PCR |
| Makuladegeneration | Makuladegeneration | Molecular Diagnostics / PCR |
| Makuladystrophie (MD): ID139 | Makuladystrophie (MD): ID139 | Molecular Diagnostics / PCR |
| Malouf-Syndrom | Malouf-Syndrom | Molecular Diagnostics / PCR |
| Mamma- und Ovarialkarzinom | Mamma- und Ovarialkarzinom | Molecular Diagnostics / PCR |
| Mammakarzinom: ID021 | Mammakarzinom: ID021 | Molecular Diagnostics / PCR |
| Mandibuloakrale Dysplasie | Mandibuloakrale Dysplasie | Molecular Diagnostics / PCR |
| Mandibulofaziale Dysostose | Mandibulofaziale Dysostose | Molecular Diagnostics / PCR |
| Mangel, Typ III, mit | Mangel, Typ III, mit | Molecular Diagnostics / PCR |
| Mangel, kernkodierter Typ | Mangel, kernkodierter Typ | Molecular Diagnostics / PCR |
| Marfan-Lipodystrophie-Syndrom | Marfan-Lipodystrophie-Syndrom | Molecular Diagnostics / PCR |
| Marfan-Syndrom (MFS) | Marfan-Syndrom (MFS) | Molecular Diagnostics / PCR |
| Marfan-Syndrom (MFS) und | Marfan-Syndrom (MFS) und | Molecular Diagnostics / PCR |
| Meckel-Syndrom (MKS): CC2D2A, CEP290, MKS1, NPHP3, RPGRIP1L, TMEM216, B9D1, B9D2, KIF14, TCTN2, TMEM67, TMEM231 | Meckel-Syndrom (MKS): CC2D2A, CEP290, MKS1, NPHP3, RPGRIP1L, TMEM216, B9D1, B9D2, KIF14, TCTN2, TMEM67, TMEM231 | Molecular Diagnostics / PCR |
| Medulloblastom (MDB) | Medulloblastom (MDB) | Molecular Diagnostics / PCR |
| Membranöse Glomerulonephritis | Membranöse Glomerulonephritis | Molecular Diagnostics / PCR |
| Mentale Retardierung und | Mentale Retardierung und | Molecular Diagnostics / PCR |
| Metachondromatose (METCD1) | Metachondromatose (METCD1) | Molecular Diagnostics / PCR |
| Migräne (MGR): ID065 | Migräne (MGR): ID065 | Molecular Diagnostics / PCR |
| Migräne, familiäre hemiplegische | Migräne, familiäre hemiplegische | Molecular Diagnostics / PCR |
| Mikrosatelliten-Instabilität | Mikrosatelliten-Instabilität | Molecular Diagnostics / PCR |
| Mikrozephalie | Mikrozephalie | Molecular Diagnostics / PCR |
| Molekulare Karyotypisierung | Molekulare Karyotypisierung | Molecular Diagnostics / PCR |
| Morbus Hirschsprung (HSCR): | Morbus Hirschsprung (HSCR): | Molecular Diagnostics / PCR |
| Morbus Stargardt (STGD): ID102 | Morbus Stargardt (STGD): ID102 | Molecular Diagnostics / PCR |
| Moyamoya-Erkrankung (MYMY5) | Moyamoya-Erkrankung (MYMY5) | Molecular Diagnostics / PCR |
| Muenke-Syndrom (MNKES) | Muenke-Syndrom (MNKES) | Molecular Diagnostics / PCR |
| Muir-Torre-Syndrom (MRTES) | Muir-Torre-Syndrom (MRTES) | Molecular Diagnostics / PCR |
| Multiple epiphysäre Dysplasie | Multiple epiphysäre Dysplasie | Molecular Diagnostics / PCR |
| Multiples Pterygium-Syndrom: | Multiples Pterygium-Syndrom: | Molecular Diagnostics / PCR |
| Multisystemische Dysfunktion | Multisystemische Dysfunktion | Molecular Diagnostics / PCR |
| Muskelfibrose (CFEOM): ID063 | Muskelfibrose (CFEOM): ID063 | Molecular Diagnostics / PCR |
| Myofibrilläre Myopathie (MFM): | Myofibrilläre Myopathie (MFM): | Molecular Diagnostics / PCR |
| Myoklonusepilepsie (EJM, EPM): | Myoklonusepilepsie (EJM, EPM): | Molecular Diagnostics / PCR |
| Myopie (MYP): ID079 | Myopie (MYP): ID079 | Molecular Diagnostics / PCR |
| Myotonie: ID255 | Myotonie: ID255 | Molecular Diagnostics / PCR |
| NF1 | NF1 | Molecular Diagnostics / PCR |
| Nachtblindheit (CSNB): ID267 | Nachtblindheit (CSNB): ID267 | Molecular Diagnostics / PCR |
| Neigung zu Drucklähmungen | Neigung zu Drucklähmungen | Molecular Diagnostics / PCR |
| Neigung zu Druckparesen (HNPP): | Neigung zu Druckparesen (HNPP): | Molecular Diagnostics / PCR |
| Nemalin-Myopathie (NEM): ID199 | Nemalin-Myopathie (NEM): ID199 | Molecular Diagnostics / PCR |
| Neonataler Diabetes mellitus | Neonataler Diabetes mellitus | Molecular Diagnostics / PCR |
| Nephrogenes Syndrom mit | Nephrogenes Syndrom mit | Molecular Diagnostics / PCR |
| Nephrokalzinose: ID231 | Nephrokalzinose: ID231 | Molecular Diagnostics / PCR |
| Nephrolithiasis und | Nephrolithiasis und | Molecular Diagnostics / PCR |
| Nephronophthise (NPHP): ID030 | Nephronophthise (NPHP): ID030 | Molecular Diagnostics / PCR |
| Nephrotisches Syndrom | Nephrotisches Syndrom | Molecular Diagnostics / PCR |
| Neurodegeneration mit | Neurodegeneration mit | Molecular Diagnostics / PCR |
| Neurofibromatose (NF): ID210 | Neurofibromatose (NF): ID210 | Molecular Diagnostics / PCR |
| Neurofibromatose (NF1) | Neurofibromatose (NF1) | Molecular Diagnostics / PCR |
| Neurofibromatose, familiäre | Neurofibromatose, familiäre | Molecular Diagnostics / PCR |
| Neuromuskuläre Erkrankungen | Neuromuskuläre Erkrankungen | Molecular Diagnostics / PCR |
| Neuronale Ceroidlipofuszinose: | Neuronale Ceroidlipofuszinose: | Molecular Diagnostics / PCR |
| Neuropathie (DSS) | Neuropathie (DSS) | Molecular Diagnostics / PCR |
| Neuropathie, hereditäre, mit | Neuropathie, hereditäre, mit | Molecular Diagnostics / PCR |
| Neuropathie, kongenitale (CHN2) | Neuropathie, kongenitale (CHN2) | Molecular Diagnostics / PCR |
| Neutropenie | Neutropenie | Molecular Diagnostics / PCR |
| Neutrophile Dermatose, akute | Neutrophile Dermatose, akute | Molecular Diagnostics / PCR |
| Nicht-papilläres Nierenzellkarzinom | Nicht-papilläres Nierenzellkarzinom | Molecular Diagnostics / PCR |
| Non-compaction Kardiomyopathie | Non-compaction Kardiomyopathie | Molecular Diagnostics / PCR |
| Noonan-Syndrom (NS): ID023 | Noonan-Syndrom (NS): ID023 | Molecular Diagnostics / PCR |
| Noonan-Syndrom (NS1) | Noonan-Syndrom (NS1) | Molecular Diagnostics / PCR |
| Noonan-Syndrom (NS3) | Noonan-Syndrom (NS3) | Molecular Diagnostics / PCR |
| Noonan-Syndrom (NS4) | Noonan-Syndrom (NS4) | Molecular Diagnostics / PCR |
| Noonan-Syndrom (NS5) | Noonan-Syndrom (NS5) | Molecular Diagnostics / PCR |
| Noonan-Syndrom (NS7) | Noonan-Syndrom (NS7) | Molecular Diagnostics / PCR |
| OIEDS-Syndrom (OIEDS1) | OIEDS-Syndrom (OIEDS1) | Molecular Diagnostics / PCR |
| OIEDS-Syndrom (OIEDS2) | OIEDS-Syndrom (OIEDS2) | Molecular Diagnostics / PCR |
| OMIM*105590, BRAF | OMIM*105590, BRAF | Molecular Diagnostics / PCR |
| OMIM*159555, KRAS | OMIM*159555, KRAS | Molecular Diagnostics / PCR |
| OMIM*164790, PIK3CA | OMIM*164790, PIK3CA | Molecular Diagnostics / PCR |
| OMIM*176943, FGFR3 | OMIM*176943, FGFR3 | Molecular Diagnostics / PCR |
| OMIM*605340, CYP4F2 | OMIM*605340, CYP4F2 | Molecular Diagnostics / PCR |
| OMIM*606278, FGFR1 OMIM*136350, FGFR2 | OMIM*606278, FGFR1 OMIM*136350, FGFR2 | Molecular Diagnostics / PCR |
| OMIM*612839, TP53 | OMIM*612839, TP53 | Molecular Diagnostics / PCR |
| Okulokutaner Albinismus (OCA): | Okulokutaner Albinismus (OCA): | Molecular Diagnostics / PCR |
| Optikusatrophie (OPA): ID081 | Optikusatrophie (OPA): ID081 | Molecular Diagnostics / PCR |
| Orofaziodigitales Syndrom (OFD): | Orofaziodigitales Syndrom (OFD): | Molecular Diagnostics / PCR |
| Osteogenesis imperfecta (OI) | Osteogenesis imperfecta (OI) | Molecular Diagnostics / PCR |
| Osteoporose | Osteoporose | Molecular Diagnostics / PCR |
| Osteosarkom | Osteosarkom: ID223 | Molecular Diagnostics / PCR |
| PCSK9: alle Exone und die | PCSK9: alle Exone und die | Molecular Diagnostics / PCR |
| PDGFRA, SDHA, SDHB, SDHC, SDHD | PDGFRA, SDHA, SDHB, SDHC, SDHD | Molecular Diagnostics / PCR |
| PMP22 | PMP22 | Molecular Diagnostics / PCR |
| PRSS1 | PRSS1 | Molecular Diagnostics / PCR |
| PTEN, AKT1, PIK3CA, SEC23B | PTEN, AKT1, PIK3CA, SEC23B | Molecular Diagnostics / PCR |
| PWS-Chromosomenregion | PWS-Chromosomenregion | Molecular Diagnostics / PCR |
| Pachyonychia congenita (PC): | Pachyonychia congenita (PC): | Molecular Diagnostics / PCR |
| Palmoplantarkeratose mit | Palmoplantarkeratose mit | Molecular Diagnostics / PCR |
| Panel; HFE, HJV, HAMP, FTL, TMPRSS6, ATP7B | Panel; HFE, HJV, HAMP, FTL, TMPRSS6, ATP7B | Molecular Diagnostics / PCR |
| Pankreaskarzinom (PNCA2) | Pankreaskarzinom (PNCA2) | Molecular Diagnostics / PCR |
| Pankreaskarzinom (PNCA3) | Pankreaskarzinom (PNCA3) | Molecular Diagnostics / PCR |
| Pankreaskarzinom (PNCA4) | Pankreaskarzinom (PNCA4) | Molecular Diagnostics / PCR |
| Pankreatitis (PCTT): ID141 | Pankreatitis (PCTT): ID141 | Molecular Diagnostics / PCR |
| Pankreatitis (TCP) | Pankreatitis (TCP) | Molecular Diagnostics / PCR |
| Pankreatitis, hereditäre (PCTT) | Pankreatitis, hereditäre (PCTT) | Molecular Diagnostics / PCR |
| Paragangliom (PGL1) | Paragangliom (PGL1) | Molecular Diagnostics / PCR |
| Paragangliom (PGL4) | Paragangliom (PGL4) | Molecular Diagnostics / PCR |
| Paragangliom (PGL5) | Paragangliom (PGL5) | Molecular Diagnostics / PCR |
| Paragangliom und | Paragangliom und | Molecular Diagnostics / PCR |
| Paragangliom und gastrisches | Paragangliom und gastrisches | Molecular Diagnostics / PCR |
| Parkinson-Syndrom (PARK): | Parkinson-Syndrom (PARK): | Molecular Diagnostics / PCR |
| Paroxysmale Dyskinesie | Paroxysmale Dyskinesie: ID286 | Molecular Diagnostics / PCR |
| Periodische Paralyse: ID253 | Periodische Paralyse: ID253 | Molecular Diagnostics / PCR |
| Periodisches Fiebersyndrom | Periodisches Fiebersyndrom | Molecular Diagnostics / PCR |
| Peroxisomenbiogenese (PBD): | Peroxisomenbiogenese (PBD): | Molecular Diagnostics / PCR |
| Pfeiffer-Syndrom | Pfeiffer-Syndrom | Molecular Diagnostics / PCR |
| Pitt-Hopkins-Syndrom (PTHS): | Pitt-Hopkins-Syndrom (PTHS): | Molecular Diagnostics / PCR |
| Plexus choroideus-Papillom | Plexus choroideus-Papillom | Molecular Diagnostics / PCR |
| Plötzlichen Kindtod (SIDS) | Plötzlichen Kindtod (SIDS) | Molecular Diagnostics / PCR |
| Polydaktylie, nicht-syndromale | Polydaktylie, nicht-syndromale | Molecular Diagnostics / PCR |
| Polymikrogyrie | Polymikrogyrie | Molecular Diagnostics / PCR |
| Polyposis-Syndrom (PS, FAP): | Polyposis-Syndrom (PS, FAP): | Molecular Diagnostics / PCR |
| Pontozerebelläre Hypoplasie | Pontozerebelläre Hypoplasie | Molecular Diagnostics / PCR |
| Porphyrie | Porphyrie | Molecular Diagnostics / PCR |
| Primäre Ziliendyskinesie (CILD1) | Primäre Ziliendyskinesie (CILD1) | Molecular Diagnostics / PCR |
| Primäre Ziliendyskinesie (CILD3) | Primäre Ziliendyskinesie (CILD3) | Molecular Diagnostics / PCR |
| Progerie und | Progerie und | Molecular Diagnostics / PCR |
| Progeroide Syndrome: ID147 | Progeroide Syndrome: ID147 | Molecular Diagnostics / PCR |
| Proteus-Syndrom: AKT1 | Proteus-Syndrom: AKT1 | Molecular Diagnostics / PCR |
| Prothrombin-Mangel, kongenitaler | Prothrombin-Mangel, kongenitaler | Molecular Diagnostics / PCR |
| Prädisposition für | Prädisposition für | Molecular Diagnostics / PCR |
| Prädisposition für Eierstockkrebs | Prädisposition für Eierstockkrebs | Molecular Diagnostics / PCR |
| Prädisposition für Gliom (GLM2) | Prädisposition für Gliom (GLM2) | Molecular Diagnostics / PCR |
| Prädisposition für Gliom (GLM3) | Prädisposition für Gliom (GLM3) | Molecular Diagnostics / PCR |
| Prädisposition für Prostatakrebs | Prädisposition für Prostatakrebs | Molecular Diagnostics / PCR |
| Prädispostion für Gliom (GLM1) | Prädispostion für Gliom (GLM1) | Molecular Diagnostics / PCR |
| Pseudo-TORCH-Syndrom | Pseudo-TORCH-Syndrom | Molecular Diagnostics / PCR |
| Pseudohypoaldosteronismus | Pseudohypoaldosteronismus | Molecular Diagnostics / PCR |
| Pseudoxanthoma elasticum (PXE) | Pseudoxanthoma elasticum (PXE) | Molecular Diagnostics / PCR |
| Pulmonale arterielle Hypertonie | Pulmonale arterielle Hypertonie | Molecular Diagnostics / PCR |
| RAD51C , RAD51D , PALB2 | RAD51C , RAD51D , PALB2 | Molecular Diagnostics / PCR |
| RAD51D | RAD51D | Molecular Diagnostics / PCR |
| RAF1 | RAF1 | Molecular Diagnostics / PCR |
| RAS-assoziiertes Autoimmunes | RAS-assoziiertes Autoimmunes | Molecular Diagnostics / PCR |
| RASopathien: ID015 | RASopathien: ID015 | Molecular Diagnostics / PCR |
| Renale Dysplasie mit | Renale Dysplasie mit | Molecular Diagnostics / PCR |
| Restriktive Kardiomyopathie | Restriktive Kardiomyopathie | Molecular Diagnostics / PCR |
| Rett-Syndrom (RTT) und | Rett-Syndrom (RTT) und | Molecular Diagnostics / PCR |
| Roussy-Levy-Syndrom | Roussy-Levy-Syndrom | Molecular Diagnostics / PCR |
| Rubinstein-Taybi-Syndrom (RSTS): | Rubinstein-Taybi-Syndrom (RSTS): | Molecular Diagnostics / PCR |
| SMAD3 | SMAD3 | Molecular Diagnostics / PCR |
| SNCA; Parkinson, autosomal | SNCA; Parkinson, autosomal | Molecular Diagnostics / PCR |
| SOS1 | SOS1 | Molecular Diagnostics / PCR |
| SPINK1 | SPINK1 | Molecular Diagnostics / PCR |
| STR-Markeranalyse | STR-Markeranalyse | Molecular Diagnostics / PCR |
| STR7-, STR11-, STR14-, STR15- | STR7-, STR11-, STR14-, STR15- | Molecular Diagnostics / PCR |
| STRY-Markeranalyse | STRY-Markeranalyse | Molecular Diagnostics / PCR |
| Saethre-Chotzen-Syndrome (SCS) | Saethre-Chotzen-Syndrome (SCS) | Molecular Diagnostics / PCR |
| Scapuloperoneale Myopathie | Scapuloperoneale Myopathie | Molecular Diagnostics / PCR |
| SchilddrĂĽsenkarzinom | SchilddrĂĽsenkarzinom: PTEN, RET, SDHB, SDHC, SDHD, APC, ATM, CHEK2, MEN1, MUTYH, SDHAF2, STK11 | Molecular Diagnostics / PCR |
| Schizenzephalie | Schizenzephalie | Molecular Diagnostics / PCR |
| Schulalter: ID171 | Schulalter: ID171 | Molecular Diagnostics / PCR |
| Schwangerschaftsverlust (RPRGL1) | Schwangerschaftsverlust (RPRGL1) | Molecular Diagnostics / PCR |
| Schwangerschaftsverlust (RPRGL2) | Schwangerschaftsverlust (RPRGL2) | Molecular Diagnostics / PCR |
| Schwerhörigkeit, digenisch | Schwerhörigkeit, digenisch | Molecular Diagnostics / PCR |
| Seckel-Syndrom (SCKL): ID113 | Seckel-Syndrom (SCKL): ID113 | Molecular Diagnostics / PCR |
| Selektive Zahn-Agenesie (STHAG): | Selektive Zahn-Agenesie (STHAG): | Molecular Diagnostics / PCR |
| Senior-Loken-Syndrom (SLSN): | Senior-Loken-Syndrom (SLSN): | Molecular Diagnostics / PCR |
| Sensoneurale Schwerhörigkeit | Sensoneurale Schwerhörigkeit | Molecular Diagnostics / PCR |
| Sensorisch-autonome Neuropathie | Sensorisch-autonome Neuropathie | Molecular Diagnostics / PCR |
| Short QT-Syndrom (SQT): CACNA1C, KCNH2, KCNQ1 | Short QT-Syndrom (SQT): CACNA1C, KCNH2, KCNQ1 | Molecular Diagnostics / PCR |
| Short-QT-Syndrom (SQT1) | Short-QT-Syndrom (SQT1) | Molecular Diagnostics / PCR |
| Short-QT-Syndrom (SQT2) | Short-QT-Syndrom (SQT2) | Molecular Diagnostics / PCR |
| Sichelzellenanämie | Sichelzellenanämie | Molecular Diagnostics / PCR |
| Sick-Sinus-Syndrom (SSS): ID107 | Sick-Sinus-Syndrom (SSS): ID107 | Molecular Diagnostics / PCR |
| Sick-Sinus-Syndrom (SSS1) | Sick-Sinus-Syndrom (SSS1) | Molecular Diagnostics / PCR |
| Silver-Russel-Syndrom (RSS) | Silver-Russel-Syndrom (RSS) | Molecular Diagnostics / PCR |
| Skelettdysplasie, schwere Form: | Skelettdysplasie, schwere Form: | Molecular Diagnostics / PCR |
| Smith-Lemli-Opitz-Syndrom (SLOS) | Smith-Lemli-Opitz-Syndrom (SLOS) | Molecular Diagnostics / PCR |
| Smith-McCort-Dysplasie (SMC1) | Smith-McCort-Dysplasie (SMC1) | Molecular Diagnostics / PCR |
| Sotos-Syndrom (SOTOS): ID181 | Sotos-Syndrom (SOTOS): ID181 | Molecular Diagnostics / PCR |
| Spastische Ataxie (SPAX): ID228 | Spastische Ataxie (SPAX): ID228 | Molecular Diagnostics / PCR |
| Spastische Paraplegie (SPG, HSP): | Spastische Paraplegie (SPG, HSP): | Molecular Diagnostics / PCR |
| Speichererkrankungen mit | Speichererkrankungen mit | Molecular Diagnostics / PCR |
| Spermatogenese-Defekt, Y-chromosomal (SPGFY) | Spermatogenese-Defekt, Y-chromosomal (SPGFY) | Molecular Diagnostics / PCR |
| Sphärozytose (SPH) und | Sphärozytose (SPH) und | Molecular Diagnostics / PCR |
| Spinale Muskelatrophie (SMA) | Spinale Muskelatrophie (SMA): | Molecular Diagnostics / PCR |
| Spinobulbäre Muskelatrophie, X-chromosomal (SMAX1) | Spinobulbäre Muskelatrophie, X-chromosomal (SMAX1) | Molecular Diagnostics / PCR |
| Spondyloepiphysäre Dysplasie | Spondyloepiphysäre Dysplasie | Molecular Diagnostics / PCR |
| Spondylokostale Dysostose | Spondylokostale Dysostose | Molecular Diagnostics / PCR |
| Spondylometaphysäre Dysplasie | Spondylometaphysäre Dysplasie | Molecular Diagnostics / PCR |
| Statin-assoziierte Myopathie: | Statin-assoziierte Myopathie: | Molecular Diagnostics / PCR |
| Stickler-Syndrom (STL): ID062 | Stickler-Syndrom (STL): ID062 | Molecular Diagnostics / PCR |
| Stiff-Skin-Syndrom (SSKS) | Stiff-Skin-Syndrom (SSKS) | Molecular Diagnostics / PCR |
| Stoffwechselstörung (SMDP): | Stoffwechselstörung (SMDP): | Molecular Diagnostics / PCR |
| Stoffwechselstörung mit Epilepsie | Stoffwechselstörung mit Epilepsie | Molecular Diagnostics / PCR |
| Stromasarkom | Stromasarkom | Molecular Diagnostics / PCR |
| Stromatumore (GIST) | Stromatumore (GIST) | Molecular Diagnostics / PCR |
| Störung der Spermatogenese | Störung der Spermatogenese | Molecular Diagnostics / PCR |
| Syndrom (AHUS): ID163 | Syndrom (AHUS): ID163 | Molecular Diagnostics / PCR |
| Syndrom (BCDS1) | Syndrom (BCDS1) | Molecular Diagnostics / PCR |
| Syndrom (BSTVS) | Syndrom (BSTVS) | Molecular Diagnostics / PCR |
| Syndrom (CMS): ID130 | Syndrom (CMS): ID130 | Molecular Diagnostics / PCR |
| Syndrom (HGPS): LMNA, BANF1, FBN1, NARF, SPRTN, ZMPSTE24, ACD, AGPAT2, ALDH18A1, ANO6, ATM, ATP6V0A2, ATP7A, B3GALT6, B4GALT7, BLM, BRCA2, BRIP1 | Syndrom (HGPS): LMNA, BANF1, FBN1, NARF, SPRTN, ZMPSTE24, ACD, AGPAT2, ALDH18A1, ANO6, ATM, ATP6V0A2, ATP7A, B3GALT6, B4GALT7, BLM, BRCA2, BRIP1 | Molecular Diagnostics / PCR |
| Syndrom (JLNS1) | Syndrom (JLNS1) | Molecular Diagnostics / PCR |
| Syndrom (JLNS2) | Syndrom (JLNS2) | Molecular Diagnostics / PCR |
| Syndrom (NFNS) | Syndrom (NFNS) | Molecular Diagnostics / PCR |
| TGFB2 | TGFB2 | Molecular Diagnostics / PCR |
| Teleangiektasie (HHT): ID155 | Teleangiektasie (HHT): ID155 | Molecular Diagnostics / PCR |
| Thanatophore Dysplasie (TD) | Thanatophore Dysplasie (TD) | Molecular Diagnostics / PCR |
| Thorakalen Aortenaneurysma mit | Thorakalen Aortenaneurysma mit | Molecular Diagnostics / PCR |
| Thorakales Aortenaneurysma | Thorakales Aortenaneurysma | Molecular Diagnostics / PCR |
| Thorakales Aortenaneurysma, familiäres (AAT) | Thorakales Aortenaneurysma, familiäres (AAT) | Molecular Diagnostics / PCR |
| Thrombophilie (THPH) (677C>T) | Thrombophilie (THPH) (677C>T) | Molecular Diagnostics / PCR |
| Thrombophilie (THPH): ID150 | Thrombophilie (THPH): ID150 | Molecular Diagnostics / PCR |
| Thrombophilie durch | Thrombophilie durch | Molecular Diagnostics / PCR |
| Thrombozytopathie (BDPLT, HPS): | Thrombozytopathie (BDPLT, HPS): | Molecular Diagnostics / PCR |
| Thrombozytopenie (THC): ID104 | Thrombozytopenie (THC): ID104 | Molecular Diagnostics / PCR |
| Timothy-Syndrom (TS) | Timothy-Syndrom (TS) | Molecular Diagnostics / PCR |
| Trio-Analyse | Trio-Analyse | Molecular Diagnostics / PCR |
| Tropische kalzifizierende | Tropische kalzifizierende | Molecular Diagnostics / PCR |
| Typ I (PMDS) | Typ I (PMDS) | Molecular Diagnostics / PCR |
| Typ II (PMDS) | Typ II (PMDS) | Molecular Diagnostics / PCR |
| Uniparentale Disomie 11 | Uniparentale Disomie 11 | Molecular Diagnostics / PCR |
| Uniparentale Disomie 14 | Uniparentale Disomie 14 | Molecular Diagnostics / PCR |
| Uniparentale Disomie 15 | Uniparentale Disomie 15 | Molecular Diagnostics / PCR |
| Uniparentale Disomie 7 | Uniparentale Disomie 7 | Molecular Diagnostics / PCR |
| Usher-Syndrom (USH): ID034 | Usher-Syndrom (USH): ID034 | Molecular Diagnostics / PCR |
| VACTERL-Assoziation | VACTERL-Assoziation: ID258 | Molecular Diagnostics / PCR |
| Ventrikelseptumdefekt | Ventrikelseptumdefekt | Molecular Diagnostics / PCR |
| Viszerale Heterotaxie (HTX): | Viszerale Heterotaxie (HTX): | Molecular Diagnostics / PCR |
| Viszerale Myopathie (VSCM): | Viszerale Myopathie (VSCM): | Molecular Diagnostics / PCR |
| Vohwinkel-Syndrom (VOWNKL) | Vohwinkel-Syndrom (VOWNKL) | Molecular Diagnostics / PCR |
| Vorhofflimmern, familiäre Form | Vorhofflimmern, familiäre Form | Molecular Diagnostics / PCR |
| Vorzeitige Ovarialinsuffizienz | Vorzeitige Ovarialinsuffizienz | Molecular Diagnostics / PCR |
| Wachstumshormonmangel: ID211 | Wachstumshormonmangel: ID211 | Molecular Diagnostics / PCR |
| Wachstumsstörung und | Wachstumsstörung und | Molecular Diagnostics / PCR |
| Walker-Warburg-Syndrom | Walker-Warburg-Syndrom | Molecular Diagnostics / PCR |
| Watson-Syndrom (WTSN) | Watson-Syndrom (WTSN) | Molecular Diagnostics / PCR |
| Weibliche Infertilität | Weibliche Infertilität | Molecular Diagnostics / PCR |
| Weill-Marchesani-Syndrom | Weill-Marchesani-Syndrom | Molecular Diagnostics / PCR |
| Weill-Marchesani-Syndrom 2 | Weill-Marchesani-Syndrom 2 | Molecular Diagnostics / PCR |
| Whole Exome Sequencing (WES) | Whole Exome Sequencing (WES) | Molecular Diagnostics / PCR |
| Wilms-Tumor (WT1) | Wilms-Tumor (WT1) | Molecular Diagnostics / PCR |
| Wilson-Krankheit (WND) | Wilson-Krankheit (WND) | Molecular Diagnostics / PCR |
| Wolff-Parkinson-White-Syndrom | Wolff-Parkinson-White-Syndrom | Molecular Diagnostics / PCR |
| X-chromosomal (CGDX) | X-chromosomal (CGDX) | Molecular Diagnostics / PCR |
| X-chromosomal (CMTX1) | X-chromosomal (CMTX1) | Molecular Diagnostics / PCR |
| X-chromosomal (ISS) | X-chromosomal (ISS) | Molecular Diagnostics / PCR |
| X-chromosomal (MRX, MRXS): | X-chromosomal (MRX, MRXS): | Molecular Diagnostics / PCR |
| X-chromosomal (XLA) | X-chromosomal (XLA) | Molecular Diagnostics / PCR |
| Xeroderma pigmentosum (XP): | Xeroderma pigmentosum (XP): | Molecular Diagnostics / PCR |
| Zellweger-Syndrom (ZWS): ID084 | Zellweger-Syndrom (ZWS): ID084 | Molecular Diagnostics / PCR |
| Zentronukleäre Myopathie (CNM): | Zentronukleäre Myopathie (CNM): | Molecular Diagnostics / PCR |
| Zerebrovaskuläre Erkrankungen | Zerebrovaskuläre Erkrankungen | Molecular Diagnostics / PCR |
| Zystische Fibrose (CF) | Zystische Fibrose (CF) | Molecular Diagnostics / PCR |
| Zystische Nierenerkrankungen: | Zystische Nierenerkrankungen: | Molecular Diagnostics / PCR |
| autosomal- rezessiv (EDMD3) | autosomal- rezessiv (EDMD3) | Molecular Diagnostics / PCR |
| autosomal-dominant | autosomal-dominant | Molecular Diagnostics / PCR |
| autosomal-dominant (ADCA): | autosomal-dominant (ADCA): | Molecular Diagnostics / PCR |
| autosomal-dominant (DFNA): | autosomal-dominant (DFNA): | Molecular Diagnostics / PCR |
| autosomal-dominant (MRD): | autosomal-dominant (MRD): | Molecular Diagnostics / PCR |
| autosomal-rezessiv | autosomal-rezessiv | Molecular Diagnostics / PCR |
| autosomal-rezessiv (DFNB): ID092 | autosomal-rezessiv (DFNB): ID092 | Molecular Diagnostics / PCR |
| autosomal-rezessiv (MCPH): ID031 | autosomal-rezessiv (MCPH): ID031 | Molecular Diagnostics / PCR |
| autosomal-rezessiv (MRT): ID037 | autosomal-rezessiv (MRT): ID037 | Molecular Diagnostics / PCR |
| axonal (CMT2A2) | axonal (CMT2A2) | Molecular Diagnostics / PCR |
| axonal (CMT2B1) | axonal (CMT2B1) | Molecular Diagnostics / PCR |
| axonal (CMT2I) | axonal (CMT2I) | Molecular Diagnostics / PCR |
| axonale Form | axonale Form | Molecular Diagnostics / PCR |
| demyelinisierend (CMT1A) | demyelinisierend (CMT1A) | Molecular Diagnostics / PCR |
| demyelinisierende Erkrankungen | demyelinisierende Erkrankungen | Molecular Diagnostics / PCR |
| demyelinisierende Form | demyelinisierende Form | Molecular Diagnostics / PCR |
| des Gehirns; ID278 | des Gehirns; ID278 | Molecular Diagnostics / PCR |
| diffuses (HDGC) | diffuses (HDGC) | Molecular Diagnostics / PCR |
| dominant (DFNA3A) | dominant (DFNA3A) | Molecular Diagnostics / PCR |
| dominant (DFNA3B) | dominant (DFNA3B) | Molecular Diagnostics / PCR |
| durch 21-Hydroxylase-Mangel | durch 21-Hydroxylase-Mangel | Molecular Diagnostics / PCR |
| familiäre neonatale (HBLRTFN) | familiäre neonatale (HBLRTFN) | Molecular Diagnostics / PCR |
| familiäres (AAT6) | familiäres (AAT6) | Molecular Diagnostics / PCR |
| fiebrige (AFND) | fiebrige (AFND) | Molecular Diagnostics / PCR |
| gekrĂĽmmten Knochen (BBDS) | gekrĂĽmmten Knochen (BBDS) | Molecular Diagnostics / PCR |
| hypogonadotroper | hypogonadotroper | Molecular Diagnostics / PCR |
| hypophosphatämische Rachitis | hypophosphatämische Rachitis | Molecular Diagnostics / PCR |
| intrahepatische Cholestase | intrahepatische Cholestase | Molecular Diagnostics / PCR |
| kolorektalen Karzinom (HNPCC6) | kolorektalen Karzinom (HNPCC6) | Molecular Diagnostics / PCR |
| kolorektales Karzinom (HNPCC1) | kolorektales Karzinom (HNPCC1) | Molecular Diagnostics / PCR |
| kolorektales Karzinom (HNPCC2) | kolorektales Karzinom (HNPCC2) | Molecular Diagnostics / PCR |
| kolorektales Karzinom (HNPCC4) | kolorektales Karzinom (HNPCC4) | Molecular Diagnostics / PCR |
| kolorektales Karzinom (HNPCC5) | kolorektales Karzinom (HNPCC5) | Molecular Diagnostics / PCR |
| lymphoproliferatives Syndrom | lymphoproliferatives Syndrom | Molecular Diagnostics / PCR |
| myelomonozytische (JMML) | myelomonozytische (JMML) | Molecular Diagnostics / PCR |
| neonataler (PNDM2) | neonataler (PNDM2) | Molecular Diagnostics / PCR |
| neonataler (PNDM3) | neonataler (PNDM3) | Molecular Diagnostics / PCR |
| neonataler (TNDM2) | neonataler (TNDM2) | Molecular Diagnostics / PCR |
| neonataler (TNDM3) | neonataler (TNDM3) | Molecular Diagnostics / PCR |
| oxidativen Phosphorylierung | oxidativen Phosphorylierung | Molecular Diagnostics / PCR |
| partielle (FPLD2) | partielle (FPLD2) | Molecular Diagnostics / PCR |
| proximale Polyposis des Magens | proximale Polyposis des Magens | Molecular Diagnostics / PCR |
| rezessiv (DFNB1A) | rezessiv (DFNB1A) | Molecular Diagnostics / PCR |
| rezessiv (DFNB1B) | rezessiv (DFNB1B) | Molecular Diagnostics / PCR |
| rezidivierenden | rezidivierenden | Molecular Diagnostics / PCR |
| spinale (FSNF) | spinale (FSNF) | Molecular Diagnostics / PCR |
| syndromale (DFNB1) [GJB2 | syndromale (DFNB1) [GJB2 | Molecular Diagnostics / PCR |
| umfassende Diagnostik: ID018 | umfassende Diagnostik: ID018 | Molecular Diagnostics / PCR |
| unverhältnismäßiger Antidiurese | unverhältnismäßiger Antidiurese | Molecular Diagnostics / PCR |
| ventrikuläre Tachykardie (CPVT): | ventrikuläre Tachykardie (CPVT): | Molecular Diagnostics / PCR |
| ähnliche Aortenerkrankungen: | ähnliche Aortenerkrankungen: | Molecular Diagnostics / PCR |
| ähnliche Krankheitsbilder: ID125 | ähnliche Krankheitsbilder: ID125 | Molecular Diagnostics / PCR |
| ĂĽberwiegend fazialer Beteiligung: | ĂĽberwiegend fazialer Beteiligung: | Molecular Diagnostics / PCR |
| (ALS) | (ALS) | Other |
| (BFH) | (BFH) | Other |
| (DESMD) | (DESMD) | Other |
| (EPD) | (EPD) | Other |
| (GAPPS) | (GAPPS) | Other |
| (HFI) | (HFI) | Other |
| (LPG) | (LPG) | Other |
| (LWD) | (LWD) | Other |
| (MADA) | (MADA) | Other |
| (MDCL) | (MDCL) | Other |
| (MFLS) | (MFLS) | Other |
| (MSSE) | (MSSE) | Other |
| (NSIAD) | (NSIAD) | Other |
| (PAH) | (PAH) | Other |
| (PAIS) | (PAIS) | Other |
| (PCH) | (PCH) | Other |
| (RALD) | (RALD) | Other |
| (SPMM) | (SPMM) | Other |
| ALDOB | ALDOB | Other |
| AMH | AMH | Other |
| APC | APC | Other |
| ASL | ASL | Other |
| ATM | ATM | Other |
| Adenomatöse Polyposis (MUTYH | Adenomatöse Polyposis (MUTYH | Other |
| BTD | BTD | Other |
| BTK | BTK | Other |
| CYBB | CYBB | Other |
| DYM | DYM | Other |
| Dysbetalipoproteinämie (APOE | Dysbetalipoproteinämie (APOE | Other |
| Faktor IX-Mangel (Hämophilie | Faktor IX-Mangel (Hämophilie | Other |
| GCSH | GCSH | Other |
| GLDC | GLDC | Other |
| HBB | HBB | Other |
| IVD | IVD | Other |
| LMNA | LMNA | Other |
| LPA | LPA | Other |
| Lynch-Syndrom] (MLH1 , MSH2 | Lynch-Syndrom] (MLH1 , MSH2 | Other |
| MEFV | MEFV | Other |
| MPZ | MPZ | Other |
| Morbus Meulengracht (UGT1A1 | Morbus Meulengracht (UGT1A1 | Other |
| OCLN | OCLN | Other |
| POMC | POMC | Other |
| PTEN | PTEN | Other |
| SDHA | SDHA | Other |
| SDHB | SDHB | Other |
| SHOX | SHOX | Other |
| Smith-Lemli-Opitz-Syndrom (DHCR7 | Smith-Lemli-Opitz-Syndrom (DHCR7 | Other |
| Tremor-Ataxie-Syndrom (FMR1 | Tremor-Ataxie-Syndrom (FMR1 | Other |
| VHL | VHL | Other |
| DIN EN 136 (1998-04) | ID136 | Product Safety (IEC 60335, IEC 62368) |
| Apo B | Apo B | Spectroscopy (XRF, ICP, AAS) |
| CACNA1A | CACNA1A | Spectroscopy (XRF, ICP, AAS) |
| ABCC6 | ABCC6 | Sterility Testing |
| ABCC8 | ABCC8 | Sterility Testing |
| SMN1 | SMN1 | Sterility Testing |
| *) 1 bar; 2 bar | *) 1 bar; 2 bar | Temperature / Pressure |
| Episodische Ataxie (EA2) | Episodische Ataxie (EA2) | Temperature / Pressure |